Renal coloboma syndrome
Ultimo aggiornamento 3 Ago 2022
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development. People with this condition typically have kidneys that are small and underdeveloped (hypoplastic), which can lead to end-stage renal disease (ESRD). This serious disease occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. It has been estimated that approximately ten percent of children with hypoplastic kidneys may have renal coloboma syndrome. The kidney problems can affect one or both kidneys.
Descrizione
Renal coloboma syndrome (also known as papillorenal syndrome) is a condition that primarily affects kidney (renal) and eye development. People with this condition typically have kidneys that are small and underdeveloped (hypoplastic), which can lead to end-stage renal disease (ESRD). This serious disease occurs when the kidneys are no longer able to filter fluids and waste products from the body effectively. It has been estimated that approximately ten percent of children with hypoplastic kidneys may have renal coloboma syndrome. The kidney problems can affect one or both kidneys.
Additionally, people with renal coloboma syndrome may have a malformation in the optic nerve, a structure that carries information from the eye to the brain. Optic nerve malformations are sometimes associated with a gap or hole (coloboma) in the light-sensitive tissue at the back of the eye (the retina). The vision problems caused by these abnormalities can vary depending on the size and location of the malformation. Some people have no visual problems, while others may have severely impaired vision.
Less common features of renal coloboma syndrome include backflow of urine from the bladder (vesicoureteral reflux), multiple kidney cysts, loose joints, and mild hearing loss.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
Coloboma of optic nerve with renal disease
Coloboma-ureteral-renal syndrome
ONCR
Optic coloboma, vesicoureteral reflux, and renal anomalies
Optic nerve coloboma renal syndrome
Papillorenal syndrome
RCS
Renal-coloboma syndrome
Related patient information and medicines
Patient information leaflet
Sindrome nefrosica
Sindrome nefrosica is a condition where the 'filters' in the renali become 'leaky' and large amounts of protein leak from dello sangue into the urine. The main symptom is fluid retention (oedema) which is mainly due to the low protein level in the blood. Various diseases can cause nephrotic syndrome, some more serious than others. The most common.
Patient information leaflet
Sindrome del cri du chat
Sindrome del cri du chat is a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of.
Patient information leaflet
Biopsia renale
A biopsia renale involves taking a small sample of tissue da the kidney. Cells from the kidney can then be looked at in detail. It is used to diagnose and monitor certain conditions. Note : the information below is a general guide only. The arrangements, and the way tests are performed, may vary between different hospitals. Always follow the.
Patient information leaflet
Sindrome di Sjögren
Sjögren's syndrome is an autoimmune disease that causes the glands that produce tears and saliva to stop working. It is a life-long condition but treatments can help control symptoms such as dry eyes and dry mouth. What is Sjögren's syndrome. It can also affect other organs including the lungs, kidneys, skin and the nervous system. Sjögren's.
Patient information leaflet
Sindrome dell'intestino irritabile
IBS stands for irritable bowel syndrome, and it is a long-term chronic condition of the gut (bowel) that causes episodes of tummy (abdominal) cramps, bloating and either constipation or diarrhoea. IBS is a problem with how the bowel works. What is IBS. IBS stands for irritable bowel syndrome and may not cause any harm to your body but sometimes.
Patient information leaflet
Cistite interstiziale
Interstitial cystitis/painful bladder syndrome is very common in women. It can cause many different symptoms including pain over your bladder and needing to pass urine more often. What is interstitial cystitis/painful bladder syndrome. Interstitial cystitis/painful bladder syndrome (IC/PBS) is a common condition that usually affects women in their.
Ulteriori letture e riferimenti
- Renal coloboma syndrome; MedlinePlus, National Library of Medicine.
- Amiel J, Audollent S, Joly D, Dureau P, Salomon R, Tellier AL, Auge J, Bouissou F, Antignac C, Gubler MC, Eccles MR, Munnich A, Vekemans M, Lyonnet S, Attie-Bitach T. PAX2 mutations in renal-coloboma syndrome: mutational hotspot and germline mosaicism. Eur J Hum Genet. 2000 Nov;8(11):820-6. doi: 10.1038/sj.ejhg.5200539.
- Bower MA, Schimmenti LA, Eccles MR. PAX2-Related Disorder. 2007 Jun 8 [updated 2025 Aug 14]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1451/
- Cheong HI, Cho HY, Kim JH, Yu YS, Ha IS, Choi Y. A clinico-genetic study of renal coloboma syndrome in children. Pediatr Nephrol. 2007 Sep;22(9):1283-9. doi: 10.1007/s00467-007-0525-z. Epub 2007 May 31.
- Dureau P, Attie-Bitach T, Salomon R, Bettembourg O, Amiel J, Uteza Y, Dufier JL. Renal coloboma syndrome. Ophthalmology. 2001 Oct;108(10):1912-6. doi: 10.1016/s0161-6420(01)00722-9.
- Schimmenti LA, Manligas GS, Sieving PA. Optic nerve dysplasia and renal insufficiency in a family with a novel PAX2 mutation, Arg115X: further ophthalmologic delineation of the renal-coloboma syndrome. Ophthalmic Genet. 2003 Dec;24(4):191-202. doi: 10.1076/opge.24.4.191.17229.
- Weber S, Moriniere V, Knuppel T, Charbit M, Dusek J, Ghiggeri GM, Jankauskiene A, Mir S, Montini G, Peco-Antic A, Wuhl E, Zurowska AM, Mehls O, Antignac C, Schaefer F, Salomon R. Prevalence of mutations in renal developmental genes in children with renal hypodysplasia: results of the ESCAPE study. J Am Soc Nephrol. 2006 Oct;17(10):2864-70. doi: 10.1681/ASN.2006030277. Epub 2006 Sep 13.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.